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Identification of new genetic defects in telomeropathies

Identification of new genetic defects in telomeropathies - GenTel

Status
Recruiting
Phases
Unknown
Study type
Observational
Source
NL-OMON
Registry ID
NL-OMON48269
Enrollment
50
Registered
2019-07-26
Start date
2019-09-06
Completion date
Unknown
Last updated
2024-04-15

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

telomere diseases Telomeropathies

Interventions

None listed

Sponsors

Erasmus MC, Universitair Medisch Centrum Rotterdam
Lead Sponsor

Eligibility

Age
18 Years to 99 Years

Inclusion criteria

Inclusion criteria: Patients are diagnosed with interstitial pulmonary disease and/or a hematological disorder and must have a positive family history (meaning at least 1 relative with an interstitial pulmonary disease or hematological disorder) or Patients are diagnosed with interstitial pulmonary disease and a hematological disorder without a positive family history, Affected family members must be diagnosed with an interstitial pulmonary disease and/or a hematological disorder, Non-affected relatives and spouses will be included in the control group

Exclusion criteria

Exclusion criteria: Patients with severe physical or life threatening conditions

Design outcomes

Primary

MeasureTime frame
Identification of new genetic defects associated with telomeropathies.

Secondary

MeasureTime frame
A study database and biobank for future research.

Countries

Netherlands

Outcome results

None listed

Source: NL-OMON (via WHO ICTRP)